Sign-in to Ask A Doctor - 24x7
OR
Sign in with Google
Suggest Tests To Confirm G6PD Deficiency In A Person
Question: I'm G6PD deficient since born, I'm 41 years and so I have to avoid a lot of food and drug lists.
I'm concerned now about my mother and daughter because according to inheritance chart in all medical websites such as http://g6pddeficiency.org/;
my mother must be also G6PD deficient and my daughter may be a partially G6PD deficient, but nothing is 100% confirmed.
My question is; what is the test other than G6PD qualitative and quantitative blood
test that my mother and daughter should undergo to be completely sure if they are G6PD deficient or not, so they avoid contradiction food and drug list or this is the only test available so far?
I'm concerned now about my mother and daughter because according to inheritance chart in all medical websites such as http://g6pddeficiency.org/;
my mother must be also G6PD deficient and my daughter may be a partially G6PD deficient, but nothing is 100% confirmed.
My question is; what is the test other than G6PD qualitative and quantitative blood
test that my mother and daughter should undergo to be completely sure if they are G6PD deficient or not, so they avoid contradiction food and drug list or this is the only test available so far?
Brief Answer:
Other tests available.
Detailed Answer:
Hi,
Thanks for asking.
I am Dr. Jyothi BL and I will be answering your query.
Based on your query, my opinion is as follows:
1. G6PD deficiency is X linked recessive. It will always be expressed in males, depending on the amount of percentage. Whereas in females, if only one side is inherited, the other X - gene will dominate and there wont be any symptoms.
2. For the present question:
a. Based on history - after infection in your mother or daughter - was there any hemolysis or sudden drop in hemoglobin - Then possibly G6PD deficient.
b. In peripheral smear, after episode secondary to medication or food - more heinz bodies or bite cells. Brilliant cresyl blue supravital stain can demonstrate heinz bodies. Reticulocyte count will also be high.
c. Other tests that can be used are flourescent spot test or methhemoglobin reduction test.
Hope it helps.
Any further queries, happy to help again.
Dr. Jyothi BL
Other tests available.
Detailed Answer:
Hi,
Thanks for asking.
I am Dr. Jyothi BL and I will be answering your query.
Based on your query, my opinion is as follows:
1. G6PD deficiency is X linked recessive. It will always be expressed in males, depending on the amount of percentage. Whereas in females, if only one side is inherited, the other X - gene will dominate and there wont be any symptoms.
2. For the present question:
a. Based on history - after infection in your mother or daughter - was there any hemolysis or sudden drop in hemoglobin - Then possibly G6PD deficient.
b. In peripheral smear, after episode secondary to medication or food - more heinz bodies or bite cells. Brilliant cresyl blue supravital stain can demonstrate heinz bodies. Reticulocyte count will also be high.
c. Other tests that can be used are flourescent spot test or methhemoglobin reduction test.
Hope it helps.
Any further queries, happy to help again.
Dr. Jyothi BL
Above answer was peer-reviewed by :
Dr. Vaishalee Punj
Dear Dr. XXXXXXX B L,
Thank you for your reply. My mother and daughter didn't suffer any of Hemolysis signs, but I'm concerned about them of being partially deficient and if they should avoid contradicted food and drug list like me or not? if I understand your answer correct, my mother and daughter should do the following tests to confirm if they are G6PD deficient or not;
1- G6PD RBC qualitative and quantative test
2- flourescent spot test
3- methhemoglobin reduction test
Thank you and regards,
XXXXXXX XXXXXXX
Thank you for your reply. My mother and daughter didn't suffer any of Hemolysis signs, but I'm concerned about them of being partially deficient and if they should avoid contradicted food and drug list like me or not? if I understand your answer correct, my mother and daughter should do the following tests to confirm if they are G6PD deficient or not;
1- G6PD RBC qualitative and quantative test
2- flourescent spot test
3- methhemoglobin reduction test
Thank you and regards,
XXXXXXX XXXXXXX
Brief Answer:
For daughter, evaluation necessary.
Detailed Answer:
Hi XXXXXXX XXXXXXX
Thanks for asking again.
Your mother might be a carrier and she might have passed it on to you. As she does not have symptoms until now, of any hemolysis after infection or food or medication - so very low possibility of being suffering from it. Testing might not be necessary.
For your daughter again, unless your wife is G6PD deficient, your daughter would be a carrier, possibly having a 50% chance of passing it on to the next male child. Testing may be necessary here.
If fluorescent spot test or methhemoglobin reduction test is positive, then G6PD qualitative and quantitative tests may be necessary. If not, not necessary.
Hope it helps.
Any further queries, happy to help again.
If you do not have any further queries, you can close the discussion and rate the answer.
Stay healthy.
Dr. Jyothi BL
For daughter, evaluation necessary.
Detailed Answer:
Hi XXXXXXX XXXXXXX
Thanks for asking again.
Your mother might be a carrier and she might have passed it on to you. As she does not have symptoms until now, of any hemolysis after infection or food or medication - so very low possibility of being suffering from it. Testing might not be necessary.
For your daughter again, unless your wife is G6PD deficient, your daughter would be a carrier, possibly having a 50% chance of passing it on to the next male child. Testing may be necessary here.
If fluorescent spot test or methhemoglobin reduction test is positive, then G6PD qualitative and quantitative tests may be necessary. If not, not necessary.
Hope it helps.
Any further queries, happy to help again.
If you do not have any further queries, you can close the discussion and rate the answer.
Stay healthy.
Dr. Jyothi BL
Note: Do you have more questions on diagnosis or treatment of blood disorders? Ask An Expert/ Specialist Now
Above answer was peer-reviewed by :
Dr. Vaishalee Punj
Answered by
Get personalised answers from verified doctor in minutes across 80+ specialties
